Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039263 | SCV000062947 | uncertain significance | not specified | 2011-11-04 | criteria provided, single submitter | clinical testing | The Gly2378Arg variant in CDH23 has not been reported in the literature, nor pre viously identified by our laboratory. This residue is conserved across species a nd computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Gly2378A rg variant may impact the protein. However, this information is not predictive e nough to assume pathogenicity. In summary, the clinical significance of this var iant cannot be determined with certainty at this time. |
Invitae | RCV001240199 | SCV001413125 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDH23 protein function. ClinVar contains an entry for this variant (Variation ID: 46027). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This variant is present in population databases (rs181197242, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2378 of the CDH23 protein (p.Gly2378Arg). |
Natera, |
RCV001274909 | SCV001459462 | uncertain significance | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |